L11R (p.Leu11Arg) variant of ACVRL1 (Activin receptor type-1-like)
L11R (p.Leu11Arg) in ACVRL1 (Activin receptor type-1-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
L11R (p.Leu11Arg) variant details
- p.Leu11Arg
- ExAC rs759002043
- gnomAD rs759002043
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- REVEL 0.60
- CADD 25.60
- PolyPhen-2 0.69
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available